PLD1 gene

phospholipase D1

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a phosphatidylcholine-specific phospholipase which catalyzes the hydrolysis of phosphatidylcholine in order to yield phosphatidic acid and choline. The enzyme may play a role in signal transduction and subcellular trafficking. Alternative splicing results in multiple transcript variants with both catalytic and regulatory properties. [provided by RefSeq, Sep 2011]

From UniProt:

Implicated as a critical step in numerous cellular pathways, including signal transduction, membrane trafficking, and the regulation of mitosis. May be involved in the regulation of perinuclear intravesicular membrane traffic (By similarity).

From NCBI Gene:

  • Cardiac valvular defect, developmental

From UniProt:

Cardiac valvular defect, developmental (CVDD): An autosomal recessive form of congenital heart defects, characterized by valvular malformations involving the pulmonic, tricuspid and mitral valves. [MIM:212093]

Cytogenetic Location: 3q26.31, which is the long (q) arm of chromosome 3 at position 26.31

Molecular Location: base pairs 171,600,404 to 171,810,483 on chromosome 3 (Homo sapiens Updated Annotation Release 109.20190607, GRCh38.p13) (NCBI)

Cytogenetic Location: 3q26.31, which is the long (q) arm of chromosome 3 at position 26.31